Living with Early HD
Vicki Wheelock, M.D.
HDSA Center of Excellence at UC Davis
Presented September 13, 2009
World Congress of Neurology Meeting
Vancouver, BC, Canada
Updated 5/30/2013
Living with Early HD
Outline
 Definitions of early HD
 Trajectory: from pre-HD to HD
 Scenarios to consider
 Strategies
 Small changes can make a difference
Living with Early HD
Neurobiological marker
(arbitrary units)
HD Over the Lifetime
Age
Paulsen JS, Hayden M, Stout JC and the PREDICT-HD Investigators.
Preparing for Preventive Clinical trials: The PREDICT-HD study. Arch Neurol 2006;63(6):883-890
Living with Early HD
Huntington Disease Stages:
Functional rating scale
Stage 0: Pre-HD
Stage 1: Slightly lower performance at work; independent at home
Stage 2: Can still work (lower level), still mostly independent at home
Stage 3: Difficult to work, starts to needs help with financial, home
activities
Stage 4: Unable to work. Needs major assistance with care
Stage 5: Full-time nursing care required
Adapted from Shoulson et al, Quantification of Neurological Deficit,
Boston:Butterworth,1989
Living with Early HD
Total Functional Capacity (TFC) Score
Abilities to:
Points
Work
0-3
Handle finances
0-2
Do home activities
0-3
Perform self-care
Live at home
0-3
HD Staging
Points
Stage 1
11 - 13
Stage 2
7 - 10
Stage 3
4-6
Stage 4
1-3
Stage 5
0
0-2
TOTAL SCORE
0 - 13
TFC declines by 0.7 units/year
Marder et al, Neurology 2000;54;452-8
Living with Early HD
Symptoms in Huntington’s disease
Impulsivity
MRI views of Striatum
Balance
Problems
Chorea:
Involuntary
Movements
↓Multi-tasking
↓Creativity
Restless,
Fidgets
Slow Eye
Movements
↓Organizing
Episodic Anger,
Irritability
Concentrating
Prioritizing
Aylward EH. Brain Res Bull 2007;72:152-8
Slowness of
Movement
Depression,
Anxiety
Trouble
Swallowing
OCD
Psychosis
↓Fine Motor
Tasks
Living with Early HD
The Transition from Pre-HD to HD
MOTOR
COGNITIVE
EMOTIONAL
Current clinical definition: Clear presence of a movement disorder.
But……brain changes and other symptoms start years before.
Living with Early HD
Studies in Pre-HD: Predict-HD
 WHEN: 2000 – current
 WHERE: >20 sites in US, Canada, Australia, Europe
 WHO: Participants who know their CAG repeat status,
CAG expanded +/-, not diagnosed
 WHAT: MRI brain scans, tests of thinking, tests of
movement, questions about symptoms
 Findings: MRI changes, performance on thinking tests,
tests of movement and sensation begin to change at
least 10 years before diagnosis
Paulsen JS et al. Detection of HD decades before diagnosis: the Predict HD study. JNNP
2008;79:874-80.
Living with Early HD
Progression
Motor score
Striatum size
Learning score
MRI scan
At the time of definitive
diagnosis of HD, the
striatum has already lost
50% of its volume.
Aylward EH. Brain Research Bulletin 2003;62:137-141
Living with Early HD
Studies in Pre-HD: TRACK-HD
 WHEN: 2008
 WHERE: 5 sites in
Europe, Canada and US
 WHO: 336 (People with
pre-HD, early HD and
controls)
 WHAT: Scans, motor,
thinking tests
 Findings
Tabrizi SJ et a. Lancet Neurology 2009;8:791-801
Living with Early HD
Early HD encompasses the period when
symptoms first began to appear, through the
time of initial diagnosis into Stages 1 and 2.
 Symptoms:
 Functional changes at work and
home
 Cognitive changes
 Mood and behavior changes
 Quality of life begins to change
 Caregiving begins before diagnosis
Living with Early HD
The goals of living with early HD
involve maintaining all of the following for
both the persons with HD and their families:
 Autonomy
 Safety and order
 Dignity
 Spirituality
 Meaningful social
interaction
 Communication
 Enjoyment,
entertainment
and well-being
 Comfort
 Nutrition
Living with Early HD
Managing the Trajectory
Don’t wait for the “official “diagnosis –
1. Establish care with an HD specialist if changes are
beginning to appear.
2. Access reliable information about HD from recognized
advocacy organizations and websites.
3. Take good care of your brain: healthy diet, regular
exercise, avoid smoking and excessive alcohol use.
4. Consider volunteering for research: observational
studies or clinical trials.
Source: T. Tempkin RNC, MSN, ANP
Living with Early HD
What about medications and supplements
to delay onset or slow progression of HD?
 Minocycline: no evidence for benefit
 Coenzyme Q10:

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studies suggest possible benefit
demonstrated tolerability in people with the HD gene expansion
high dose needed, $$$
large multicenter trial now underway (2CARE, Cudkowicz, PI), enrollment closed
Pre-HD study completed (PREQUEL, Ross, PI); results will be announced soon
 Creatine:



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studies suggest possible benefit
good tolerability in people with the HD gene expansion
but high doses can be toxic!
Large multicenter trial underway (CREST-E, Hersch PI)
 Fish Oil (ethyl EPA):
 not helpful for chorea
 Good tolerability in people with the HD gene expansion
 ?Other benefits?
Living with Early HD
Scenario 1
A 38 year old woman who tested positive for the HD CAG
expansion 5 years ago comes to the clinic to establish care.
She has never experienced chorea or clumsiness, but she
has had persistent feelings of sadness and hopelessness,
sleeps poorly, and has lost weight. She moved from one job
to another in the 2 years, and gives vague reasons for the
job changes. She admits that she’s missed paying some
bills on time, and that she doesn’t keep her apartment as
clean as she used to. She wonders if she might be starting
to get symptoms of HD.
What do you think?
Living with Early HD
Managing the Trajectory: Stage I
Changes
 Still working– but may be
stressed or starting to
decline in performance
 Still independent at home,
but multi-tasking begins to
become more difficult
 Emotional symptoms of
anxiety, depression,
irritability may occur
Strategies
 Stress management
 Adaptations at work
 Allow more time; avoid
multi-tasking
 Seek treatment for cognitive
and mood changes
 Counseling
 Medications
Living with Early HD
Scenario 2
A 28 year old man with the HD CAG expansion gets
angry at work and assaults a co-worker. He quits
that job and is re-hired at another, and no legal
problems have surfaced. He denies difficulty with
irritability, but his wife reports frequent anger
outbursts at home. His neurological exam shows
only questionable signs of HD.
What do you think?
Living with Early HD
Managing irritability and anger
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Establish and stick to routines, schedules
Look for behavioral triggers; re-direct
Avoid confrontations and ultimatums
Limit alcohol
Limit stimulants (caffeine)
Consider anxiety or depression as a cause
If anger is severe and/or frequent, medications will help
Call authorities if necessary
Paradiso S et al. “Neural bases of dysphoria in early HD. “Psych Research: Neuroimaging 2008;162:73-87
Duff K et al. “Psychiatric symptoms in HD before diagnosis: the Predict-HD study,” Biol Psychiatr 2007;62: 1341-6.
Living with Early HD
Scenario 3
A 25 year old woman is brought to the HD clinic by
her father. Her mother died of HD in her 30’s, and
her older sister was diagnosed with HD a few years
ago. She’s had difficulty keeping a job for the last
year or so, and she is more withdrawn and
apathetic. Her neurological exam shows that she
has mild memory problems, marked slowness in
movement, rigidity in her arms, poor balance.
What do you think?
Living with Early HD
Managing the Trajectory: Stage II
Changes
 May still be able to work –
but at a reduced capacity.
 Still mostly independent at
home, but organizing and
prioritizing may be more
challenging, and may not
be as engaged in family
activities.
Strategies
 If possible, negotiate with
work place for modified
duties, or apply for disability
 Help to maintain a schedule
 Seek treatment for cognitive
and mood changes
 Future planning
• Disability
• Long-term care
Living with Early HD
Managing Apathy
Routines, structure, “prompting”
Evaluate for
Depression
Medical issues (thyroid dysfunction)
Side effects of medications, including those for
chorea, insomnia, allergies, depression
 Trial of atomoxetine failed to show benefit
 Sometimes stimulant drugs can be remarkably
effective
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
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Beglinger LJ et al. “RCT of atomoxetine for cognitive dysfunction in HD,”
J Clin Psychopharmacol 2009:29:484-7.
Living with Early HD
Scenario 4
A 29 year old successful young professional
developed psychosis as the initial manifestation
of HD. His psychosis is well controlled with
medications. By age 36 he can no longer work,
but externalizes the reason. His wife divorces
him, he no longer has a car, and he comes to
clinic expressly to “get my car keys back.” He
insists that he doesn’t have HD.
What do you think?
Living with Early HD
Unawareness and HD
 Not the same as psychological denial
 It’s quite common, but not everyone with HD
has this difficulty
 Can be limited to some symptoms, but not all
 Can lead to work, family conflict, injury
 Treatment is difficult; behavioral strategies are
best
Hoth, Paulsen et al, “Patients with Huntington's disease have impaired
awareness of cognitive, emotional, and functional abilities,” J Cin Exper
Neuropsychol 2007: 365-376.
Living with Early HD
A Few Final Words
 It’s never too early to start behavioral strategies
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Structure and routines help tremendously
Regular schedule of sleep/wake, meals, activities
Use calendars and reminders
The HD mantra: one thing at a time
 Good for the brain:
 Healthy diet
 Regular exercise
 Avoid brain toxins…..alcohol, smoking
 Caregiving begins BEFORE Stage 1.
 Ask for help.
 “Share the Care!”
Living with Early HD
Thank you, patients and families!
Thank you for your courage and hope
for the future … for your advocacy for
better care and a cure … for teaching
health professionals about HD … and
for volunteering for research.